Download COMBINED HAMARTOMA OF THE RETINA AND RETINAL

SHORT COMMUNICATION
ARCH SOC ESP OFTALMOL 2008; 83: 193-196
COMBINED HAMARTOMA OF THE RETINA AND
RETINAL PIGMENT EPITHELIUM DIAGNOSED BY
RETINAL ANGIOGRAPHY AND OPTICAL COHERENCE
TOMOGRAPHY
HAMARTOMA COMBINADO DE RETINA Y EPITELIO
PIGMENTARIO RETINIANO. DIAGNÓSTICO MEDIANTE
TOMOGRAFÍA DE COHERENCIA ÓPTICA Y
ANGIOFLUORESCEINGRAFÍA
PÉREZ-ÁLVAREZ MJ1, ALEJANDRE-ALBA N1, GARCÍA-SÁNCHEZ J2
ABSTRACT
RESUMEN
Clinical case: This report is based on the case of a
35-year-old woman who developed a combined
hamartoma of the retina and retinal pigment epithelium in her right eye. The diagnosis was determined
based on the fundus examination: hyperplasia of the
retinal pigment epithelium cells, tortuosity of the
vessels and epiretinal membrane.
Discussion: Optical coherence tomography and
retinal angiography are important to rule out malignant melanoma of the choroid and retinoblastoma.
Regular follow-up is essential because reduction in
visual acuity can be related to an epiretinal membrane, neovascular membrane or vitreous hemorrhage
(Arch Soc Esp Oftalmol 2008; 83: 193-196).
Caso clínico: Se presenta el caso de una paciente
de 35 años, que desarrolló un hamartoma combinado de retina y epitelio pigmentado retiniano. El
diagnóstico se determinó en base a los característicos hallazgos funduscópicos: hiperplasia del epitelio pigmentado retiniano, tortuosidad vascular y
membrana epirretiniana.
Discusión: La tomografía de coherencia óptica y la
angiofluoresceingrafía permiten descartar melanoma coroideo o retinoblastoma. Es importante realizar un seguimiento periódico por la posibilidad de
afectación visual por membrana neovascular coroidea, membrana epirretiniana o hemorragia vítrea.
Key words: Hamartoma of the retina and retinal
pigment epithelium, Optical coherence tomography.
Palabras clave: Hamartoma combinado de retina y
epitelio pigmentado retiniano, tomografía de coherencia óptica.
Received: Sept. 15, 2006. Accepted: Feb. 18, 2008.
San Carlos Clinical Hospital. Complutense University of Madrid. Madrid. Spain.
1 Graduate in Medicine.
2 Ph.D. in Medicine.
Correspondence:
María Jesús Pérez Álvarez
Paseo de los Pontones, 5, 4.º Dcha.
28005 Madrid
España
E-mail: [email protected]
PÉREZ-ÁLVAREZ MJ, et al.
INTRODUCTION
Combined Hamartomas of Retina and Retinal
Pigment Epithelium (CHRRPE) are rare benign
tumors characterized by the proliferation of retinal
pigment epithelium (RPE) and glyal tissue, generating a large papillary and retinal distortion. A single
unilateral over-elevated hyper-pigmented lesion is
observed, accompanied by vascular tortuosity and
epiretinal membrane (ERM).
CASE REPORT
This short communication presents the case of a
35 year-old woman who visited the practice due to
miodesopsiae in the right eye (RE). The exploration
evidenced a corrected visual acuity (VA) in both
eyes of 1. No iridian nodules were observed in the
anterior biomicroscopy. The tonometry gave normal results, while the funduscopy showed for the
right eye a nasal, elevated and hyper pigmented
peripapillary lesion, with telangectasic tortuous
vessels and ERM, as well as peripapillary chorioretinal atrophy below the lesion (fig. 1). The periphery exhibited an area of vitreous traction, possibly
the cause of the symptoms, which was photocoagulated with argon laser. The left eye produced normal
results (fig. 2).
The angiofluoresceingraph (AFG) showed a fluorescence interruption in early times and telangiectasic vessels with loss of contrast and slight tincture of
the lesion in late times. No choroidal or retinal neovascularization signs were observed (fig. 3).
The ocular echography did not reveal significant
elevation of the lesion or signs suggesting choroidal
melanoma.
The Optical Coherence Tomography (OCT) showed a hyper-reflecting retinal elevation with
underlying hypo-reflecting shadow and important
distortion of the retinal architecture within the
limits of the lesion, with clear ERM (figs. 4 and 5).
The Humphrey 24-2 computerized perimetry showed that the lesion generated an absolute scotoma.
With a suspected Combined Hamartoma of retina
and retinal pigment epithelium (CHRRPE), the
Fig. 1: RE funduscopy showing the characteristic elevated pigmented lesion with telangiectasic vessels.
Fig. 3: Late times showing loss from telangiectasic dilatations and slight tincture of the lesion.
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Fig. 2: LE funduscopy without alterations.
ARCH SOC ESP OFTALMOL 2008; 83: 193-196
Retina and retinal pigment epithelium combined hamartoma
Fig. 4 y 5: Optical Coherence Tomography showing the distortion of the retinal architecture, elevating hyper-reflecting lesion with pre-retinal membrane.
patient was referred to internal medicine to discard
associated diseases and a cranial and orbitary
Nuclear Magnetic Resonance (NMR) was performed. The systemic studies produced normal results.
After 6 months of evolution, the lesion remains
stable without VA reduction or emergence of metamorphopsiae or other complications.
DISCUSSION
A hamartoma is a benign proliferation of cells
which, in normal conditions, are in the same location, therefore the CHRRPE exhibits a malformation of the RPE, the neurosensory retina, vascularization and adjacent vitreous, in variable degrees.
93% of cases exhibit vascular tortuosity, 87%
hyper-pigmentation, 80% elevated lesion, and 78%
ERM. Usually these are single and unilateral
lesions located close to the optic nerve (76%), in the
macula (17%) or peripheral (7%) (1,2).
10% of cases constitute a casual finding, with the
most frequent symptoms being the painless loss of VA
(60%), while other expressions include strabismus
(18%), miodesopsia (5%), leucochoria and pain (5%).
The direct involvement of the fovea, the papillomacular
line or the optic nerve are the most frequent causes of
VA reduction, although it can also be caused by the traction caused by the ERM, and intra- or sub-retinal exudation from the vascular components of the lesion (2).
In the majority of cases, the disease progression
is stationary (2). However, on some occasions there
may be late vision loss due to vitreous hemorrhage
(VH), choroidal neovascular membrane (CNVM),
chronic macular edema, progressive retinoschisis,
macular hole, retina detachment (RD) and retinal
neovascularization (1). The lesion will grow only
exceptionally.
As mentioned above, the diagnostic is based on
funduscopy and confirmed with OCT and AFG
(2,3). OCT is highly characteristic, with considerable distortion of all the structures, ERM and vitreoretinal traction. This test could be a tool for determining the usefulness of vitrectomy pars plana
(VPP) with peeling of ERM in some cases (4).
Echography is not always precise because the
lesions are not very elevated and do not exhibit a
typical ultrasound pattern.
The differential diagnostic must be made with
choroidal tumors and retinoblastoma (2,3), and the
above mentioned tests are useful for this purpose.
The majority of cases do not exhibit systemic
expressions. The literature reports cases with type 1
and 2 neurofibromatosis, although this association
is not yet clearly established. It can also be associated to facial hemangioma, pigment incontinence
and tuberous sclerosis. Therefore, neuroimaging
tests are not recommended (1).
Most cases do not require treatment. Occlusion is
recommended in children to prevent amblyopia. The
indications for VPP are not yet fully established with
regard to the peeling of ERM. The cases described in
the literature exhibit different visual results. This
controversy is due to the fact that, at the histological
level, the lesion is intra-retinal and therefore improvements are evidenced only by the cases exhibiting
clear vitreous traction (4). VPP would be indicated as
treatment for the complications (VH, RD) with variable results for different authors (1.5). Some describe
good visual results after submacular surgery as treatment for CNVM because these are located above the
RPE (Gass type 2) (5).
ARCH SOC ESP OFTALMOL 2008; 83: 193-196
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PÉREZ-ÁLVAREZ MJ, et al.
It can be concluded that, even though CHRRPE
are benign tumors, an adequate differential diagnostic must be made by means of AFG and OCT, in
addition to a regular follow-up due to the risk of
losing VA on account of the associated complications such as ERM, CNVM, VH and RD.
REFERENCES
1. Helbig H, Niederberger H. Presumed combined hamartoma of the retina and retinal pigment epithelium with preretinal neovascularization. Am J Ophthalmol 2003; 136:
1157-1159.
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2. Hamdi R, De Korvin H, Speeg-Schatz C, Szwarcberg J.
Combined hamartoma of the retina and retinal pigment
epithelium. Four case studies. J Fr Ophtalmol 2006; 29:
e6.
3. Shields CL, Materin MA, Shields JA. Review of optical
coherence tomography for intraocular tumors. Curr Opin
Ophthalmol 2005; 16: 41-54.
4. Stallman JB. Visual improvement after pars plana vitrectomy and membrane peeling for vitreoretinal traction
associated with combined hamartoma of the retina and
retinal pigment epithelium. Retina 2002; 22: 101-104.
5. Inoue M, Noda K, Ishida S, Yamaguchi T, Nagai N, Shinoda K, et al. Successful treatment of subfoveal choroidal
neovascularization associated with combined hamartoma
of the retina and retinal pigment epithelium. Am J Ophthalmol 2004; 138: 155-156.
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